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trfermikit: a tool to discover VNTR-associated deletions
SUMMARY: We present trfermikit, a software tool designed to detect deletions larger than 50 bp occurring in Variable Number Tandem Repeats using Illumina DNA sequencing reads. In such regions, it achieves a better tradeoff between sensitivity and false discovery than a state-of-the-art structural va...
Autores principales: | McHale, Peter, Quinlan, Aaron R |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8826174/ https://www.ncbi.nlm.nih.gov/pubmed/34864893 http://dx.doi.org/10.1093/bioinformatics/btab805 |
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